Master Mandana, Day Gavin
Department of Obstetrics and Gynaecology, Women's and Children's Hospital, Adelaide, SA 5006, Australia.
Case Rep Obstet Gynecol. 2012;2012:490169. doi: 10.1155/2012/490169. Epub 2012 Dec 13.
We report a case of acute aortic dissection in a lady of 28 weeks of gestation with undiagnosed Marfan syndrome. The patient had been seen in our antenatal clinics. Her history documented in her pregnancy record was negative for genetic/congenital abnormalities. There was no family history documented. Subsequently, at 28 weeks of gestation, the patient presented with sudden onset chest, jaw, and back pain. Further history revealed that her father had died at the age of 27 of an aortic dissection. Echocardiography showed aortic root dissection with occlusion of aortic branches. She subsequently underwent an emergency lower segment caesarean section followed by surgical repair of type A dissection. A simultaneous type B dissection was managed conservatively. On later examination, our patient fulfilled the diagnostic criteria for phenotypic expression of Marfan syndrome. Genetic testing also confirmed that she has a mutation of the fibrillin (FBN 1) gene associated with the disease.
我们报告一例妊娠28周的女性急性主动脉夹层病例，该患者患有未确诊的马凡综合征。该患者曾在我们的产前门诊就诊。其妊娠记录中记载的病史显示无遗传/先天性异常。无家族病史记录。随后，在妊娠28周时，该患者突然出现胸部、颌部和背部疼痛。进一步询问病史发现，她的父亲在27岁时死于主动脉夹层。超声心动图显示主动脉根部夹层伴主动脉分支闭塞。她随后接受了急诊低位剖宫产，接着进行了A型夹层的手术修复。同时存在的B型夹层采用保守治疗。在后续检查中，我们的患者符合马凡综合征表型表达的诊断标准。基因检测也证实她存在与该疾病相关的原纤蛋白（FBN 1）基因突变。
